Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03210:Tnr'

413265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tnr

Ensembl Gene

ENSMUSG00000015829

Gene Name

tenascin R

Synonyms

J1-tenascin, restrictin, janusin, TN-R

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03210

Quality Score

Status

Chromosome

Chromosomal Location

159351339-159759299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 159715880 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 881 (T881A)

Ref Sequence

ENSEMBL: ENSMUSP00000141553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111669] [ENSMUST00000192069]

AlphaFold

Q8BYI9

Predicted Effect

probably benign
Transcript: ENSMUST00000111669
AA Change: T881A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000107298
Gene: ENSMUSG00000015829
AA Change: T881A

Domain	Start	End	E-Value	Type
EGF_like	203	231	3.87e1	SMART
EGF_like	234	262	3.16e1	SMART
EGF_like	265	293	2.8e1	SMART
EGF	296	324	2.43e1	SMART
FN3	326	404	4.77e-8	SMART
FN3	415	493	3.1e-7	SMART
FN3	504	583	2.01e-6	SMART
FN3	594	675	1.98e-5	SMART
FN3	686	763	3.29e-11	SMART
FN3	774	851	3.32e-7	SMART
FN3	864	942	3.73e-10	SMART
FN3	953	1031	2.28e-5	SMART
FN3	1041	1118	8.56e-10	SMART
FBG	1133	1343	2.69e-133	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192069
AA Change: T881A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141553
Gene: ENSMUSG00000015829
AA Change: T881A

Domain	Start	End	E-Value	Type
EGF_like	203	231	3.87e1	SMART
EGF_like	234	262	3.16e1	SMART
EGF_like	265	293	2.8e1	SMART
EGF	296	324	2.43e1	SMART
FN3	326	404	4.77e-8	SMART
FN3	415	493	3.1e-7	SMART
FN3	504	583	2.01e-6	SMART
FN3	594	675	1.98e-5	SMART
FN3	686	763	3.29e-11	SMART
FN3	774	851	3.32e-7	SMART
FN3	864	942	3.73e-10	SMART
FN3	953	1031	2.28e-5	SMART
FN3	1041	1118	8.56e-10	SMART
FBG	1133	1343	2.69e-133	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The encoded protein is restricted to the central nervous system. The protein may play a role in neurite outgrowth, neural cell adhesion and modulation of sodium channel function. It is a constituent of perineuronal nets. [provided by RefSeq, Aug 2013]
PHENOTYPE: In spite of having decreased conduction velocity in the optic nerve and ultrastrucural alterations within the hippocampus, homozygous null mice are viable, fertile, and display normal behavior. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	A	G	4: 103,141,635 (GRCm39)	F9L	probably benign	Het
Adora3	T	C	3: 105,815,176 (GRCm39)	S163P	probably benign	Het
Ark2c	C	A	18: 77,554,435 (GRCm39)	V60L	probably damaging	Het
C3	G	A	17: 57,522,846 (GRCm39)	Q1013*	probably null	Het
Cacna1b	A	T	2: 24,540,584 (GRCm39)	F1381Y	probably benign	Het
Dcdc2b	T	C	4: 129,505,578 (GRCm39)	K95R	probably benign	Het
Dnah8	A	G	17: 31,034,639 (GRCm39)	E4186G	probably damaging	Het
Dock1	T	C	7: 134,358,668 (GRCm39)	V374A	possibly damaging	Het
Gramd2b	A	G	18: 56,607,170 (GRCm39)	T95A	probably benign	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Hmgb4	A	G	4: 128,154,535 (GRCm39)	V11A	probably benign	Het
Knl1	G	A	2: 118,901,098 (GRCm39)	S933N	probably benign	Het
Ldlrad3	G	A	2: 101,900,271 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,390,331 (GRCm39)	Y1698F	probably benign	Het
Ms4a14	A	G	19: 11,279,325 (GRCm39)	W1078R	possibly damaging	Het
Nol4l	G	A	2: 153,371,378 (GRCm39)	P102L	probably benign	Het
Nsun3	A	G	16: 62,591,110 (GRCm39)	F178L	probably damaging	Het
Nup85	T	A	11: 115,457,462 (GRCm39)	Y55N	probably benign	Het
Opcml	A	G	9: 28,812,833 (GRCm39)	E175G	probably damaging	Het
Or10a3m	T	A	7: 108,312,775 (GRCm39)	Y60N	probably damaging	Het
Or11g7	A	T	14: 50,691,440 (GRCm39)	R310S	probably benign	Het
Or9g4	T	C	2: 85,504,697 (GRCm39)	Y266C	probably damaging	Het
Pask	A	T	1: 93,247,714 (GRCm39)	W1074R	possibly damaging	Het
Pdzrn3	T	C	6: 101,133,913 (GRCm39)	T439A	possibly damaging	Het
Pkd1l1	C	A	11: 8,915,127 (GRCm39)	V138L	unknown	Het
Ptprj	C	A	2: 90,300,070 (GRCm39)	V244L	probably benign	Het
Rapgef5	A	G	12: 117,706,607 (GRCm39)	K697E	probably damaging	Het
Rp9	G	T	9: 22,368,724 (GRCm39)	H78Q	probably benign	Het
Serpinb8	A	G	1: 107,530,641 (GRCm39)	T140A	probably damaging	Het
Slc29a4	A	T	5: 142,700,863 (GRCm39)	M203L	probably damaging	Het
Stag1	T	A	9: 100,727,129 (GRCm39)	L363I	possibly damaging	Het
Susd1	T	G	4: 59,333,035 (GRCm39)		probably null	Het
Thoc3	A	T	13: 54,614,035 (GRCm39)	M196K	probably benign	Het
Ttbk2	A	G	2: 120,652,973 (GRCm39)	V17A	probably damaging	Het
Ttc41	T	A	10: 86,560,278 (GRCm39)		probably null	Het
Utp14b	A	G	1: 78,643,268 (GRCm39)	M389V	probably benign	Het
Utp4	T	A	8: 107,642,888 (GRCm39)	H515Q	probably benign	Het
Xpo1	A	G	11: 23,228,834 (GRCm39)	H223R	probably benign	Het
Xpot	A	G	10: 121,451,132 (GRCm39)		probably benign	Het
Zfp455	A	T	13: 67,355,113 (GRCm39)	H127L	possibly damaging	Het
Zscan4e	T	A	7: 11,041,459 (GRCm39)	M166L	probably benign	Het

Other mutations in Tnr

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Tnr	APN	1	159,688,815 (GRCm39)	missense	probably benign	0.00
IGL00905:Tnr	APN	1	159,679,752 (GRCm39)	missense	probably benign	0.06
IGL01396:Tnr	APN	1	159,724,594 (GRCm39)	missense	possibly damaging	0.91
IGL01550:Tnr	APN	1	159,701,828 (GRCm39)	missense	probably benign
IGL01803:Tnr	APN	1	159,695,813 (GRCm39)	missense	probably damaging	1.00
IGL01845:Tnr	APN	1	159,695,576 (GRCm39)	unclassified	probably benign
IGL01983:Tnr	APN	1	159,691,349 (GRCm39)	missense	probably benign	0.00
IGL01985:Tnr	APN	1	159,746,607 (GRCm39)	missense	possibly damaging	0.70
IGL02210:Tnr	APN	1	159,679,671 (GRCm39)	missense	probably benign	0.44
IGL02486:Tnr	APN	1	159,679,664 (GRCm39)	splice site	probably null
Assiduous	UTSW	1	159,719,593 (GRCm39)	missense	probably benign
Grip	UTSW	1	159,713,680 (GRCm39)	missense	possibly damaging	0.68
Persistent	UTSW	1	159,679,856 (GRCm39)	missense	probably benign
Tenacious	UTSW	1	159,701,770 (GRCm39)	missense	probably damaging	1.00
R0002:Tnr	UTSW	1	159,701,770 (GRCm39)	missense	probably damaging	1.00
R0002:Tnr	UTSW	1	159,701,770 (GRCm39)	missense	probably damaging	1.00
R0009:Tnr	UTSW	1	159,679,986 (GRCm39)	missense	probably damaging	1.00
R0042:Tnr	UTSW	1	159,714,595 (GRCm39)	missense	probably benign	0.01
R0594:Tnr	UTSW	1	159,677,905 (GRCm39)	missense	probably benign
R0617:Tnr	UTSW	1	159,695,673 (GRCm39)	missense	probably damaging	1.00
R0637:Tnr	UTSW	1	159,677,905 (GRCm39)	missense	possibly damaging	0.60
R0682:Tnr	UTSW	1	159,679,877 (GRCm39)	nonsense	probably null
R1171:Tnr	UTSW	1	159,685,780 (GRCm39)	missense	probably damaging	0.97
R1185:Tnr	UTSW	1	159,679,856 (GRCm39)	missense	probably benign
R1185:Tnr	UTSW	1	159,679,856 (GRCm39)	missense	probably benign
R1185:Tnr	UTSW	1	159,679,856 (GRCm39)	missense	probably benign
R1335:Tnr	UTSW	1	159,695,600 (GRCm39)	missense	probably benign	0.18
R1540:Tnr	UTSW	1	159,677,675 (GRCm39)	missense	probably damaging	0.99
R1697:Tnr	UTSW	1	159,679,600 (GRCm39)	missense	probably benign	0.00
R1938:Tnr	UTSW	1	159,722,607 (GRCm39)	nonsense	probably null
R1941:Tnr	UTSW	1	159,677,704 (GRCm39)	missense	possibly damaging	0.92
R2021:Tnr	UTSW	1	159,679,592 (GRCm39)	missense	probably benign
R2022:Tnr	UTSW	1	159,679,592 (GRCm39)	missense	probably benign
R2051:Tnr	UTSW	1	159,719,603 (GRCm39)	missense	probably benign
R2157:Tnr	UTSW	1	159,685,840 (GRCm39)	missense	probably damaging	0.98
R2319:Tnr	UTSW	1	159,677,618 (GRCm39)	start codon destroyed	probably null	1.00
R2936:Tnr	UTSW	1	159,715,932 (GRCm39)	missense	probably damaging	0.96
R3015:Tnr	UTSW	1	159,715,829 (GRCm39)	missense	probably benign	0.00
R3417:Tnr	UTSW	1	159,722,612 (GRCm39)	missense	probably benign	0.00
R3739:Tnr	UTSW	1	159,750,983 (GRCm39)	missense	possibly damaging	0.78
R3977:Tnr	UTSW	1	159,719,593 (GRCm39)	missense	probably benign
R4232:Tnr	UTSW	1	159,713,785 (GRCm39)	missense	possibly damaging	0.55
R4478:Tnr	UTSW	1	159,712,326 (GRCm39)	splice site	probably null
R4774:Tnr	UTSW	1	159,724,636 (GRCm39)	missense	probably damaging	1.00
R4829:Tnr	UTSW	1	159,685,974 (GRCm39)	missense	probably benign	0.24
R4837:Tnr	UTSW	1	159,512,358 (GRCm39)	intron	probably benign
R5111:Tnr	UTSW	1	159,713,798 (GRCm39)	missense	probably benign	0.04
R5224:Tnr	UTSW	1	159,750,885 (GRCm39)	missense	probably damaging	1.00
R5249:Tnr	UTSW	1	159,512,226 (GRCm39)	intron	probably benign
R5730:Tnr	UTSW	1	159,715,892 (GRCm39)	missense	probably benign	0.02
R5807:Tnr	UTSW	1	159,714,500 (GRCm39)	missense	possibly damaging	0.95
R5832:Tnr	UTSW	1	159,713,692 (GRCm39)	missense	probably benign	0.15
R5927:Tnr	UTSW	1	159,740,336 (GRCm39)	missense	probably damaging	1.00
R6049:Tnr	UTSW	1	159,740,324 (GRCm39)	missense	probably damaging	1.00
R6056:Tnr	UTSW	1	159,714,479 (GRCm39)	missense	probably damaging	0.99
R6063:Tnr	UTSW	1	159,740,254 (GRCm39)	missense	probably benign	0.00
R6141:Tnr	UTSW	1	159,714,692 (GRCm39)	missense	probably benign
R6218:Tnr	UTSW	1	159,715,884 (GRCm39)	missense	possibly damaging	0.94
R6275:Tnr	UTSW	1	159,688,840 (GRCm39)	missense	probably damaging	0.99
R6543:Tnr	UTSW	1	159,751,677 (GRCm39)	missense	probably damaging	1.00
R6626:Tnr	UTSW	1	159,677,822 (GRCm39)	missense	probably damaging	1.00
R7378:Tnr	UTSW	1	159,712,432 (GRCm39)	critical splice donor site	probably null
R7587:Tnr	UTSW	1	159,713,778 (GRCm39)	missense	probably benign	0.27
R7766:Tnr	UTSW	1	159,715,880 (GRCm39)	missense	probably benign	0.00
R8140:Tnr	UTSW	1	159,691,265 (GRCm39)	missense	probably damaging	0.99
R8215:Tnr	UTSW	1	159,715,860 (GRCm39)	missense	possibly damaging	0.91
R8248:Tnr	UTSW	1	159,719,663 (GRCm39)	missense	probably damaging	0.98
R8374:Tnr	UTSW	1	159,685,953 (GRCm39)	missense	probably benign	0.24
R8427:Tnr	UTSW	1	159,713,801 (GRCm39)	missense	possibly damaging	0.67
R8465:Tnr	UTSW	1	159,713,645 (GRCm39)	missense	probably benign	0.01
R8534:Tnr	UTSW	1	159,746,585 (GRCm39)	missense	probably benign	0.18
R8753:Tnr	UTSW	1	159,677,936 (GRCm39)	missense	probably benign	0.28
R8804:Tnr	UTSW	1	159,685,882 (GRCm39)	missense	probably benign
R8857:Tnr	UTSW	1	159,713,728 (GRCm39)	missense	probably benign	0.10
R8917:Tnr	UTSW	1	159,701,692 (GRCm39)	nonsense	probably null
R8930:Tnr	UTSW	1	159,740,359 (GRCm39)	missense	probably damaging	1.00
R8932:Tnr	UTSW	1	159,740,359 (GRCm39)	missense	probably damaging	1.00
R8940:Tnr	UTSW	1	159,685,867 (GRCm39)	missense	probably damaging	1.00
R9096:Tnr	UTSW	1	159,677,804 (GRCm39)	missense	probably benign	0.10
R9127:Tnr	UTSW	1	159,713,680 (GRCm39)	missense	possibly damaging	0.68
R9205:Tnr	UTSW	1	159,722,617 (GRCm39)	missense	probably benign
R9311:Tnr	UTSW	1	159,677,663 (GRCm39)	missense	probably benign	0.30
R9679:Tnr	UTSW	1	159,719,608 (GRCm39)	missense	probably benign	0.08
X0011:Tnr	UTSW	1	159,716,908 (GRCm39)	missense	probably benign	0.02
X0028:Tnr	UTSW	1	159,701,684 (GRCm39)	missense	probably damaging	1.00
Z1088:Tnr	UTSW	1	159,722,665 (GRCm39)	missense	probably benign	0.29
Z1177:Tnr	UTSW	1	159,679,661 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02